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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

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Description scientific article published on 11 June 2020
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author: Maria Clara Bonaglia  Lucia Castiglia 

Publication date June 11, 2020
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